OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes research articles, reviews, communications and technical notes, etc. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.
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Mosaicism and Chimerism
Submission Deadline: April 30, 2022 (Open) Submit Now
Ying S. Zou, MD, PhD, FACMG
Director of Cancer Genetics Laboratory, Johns Hopkins Hospital, Co-Director of Cytogenomics Laboratory, Associate Director of Molecular Diagnostic Laboratory, and Associate Professor, Department of Genetic Medicine and Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Research Interests: genomics; molecular diagnostics; cytogenomics; cancer genetics; chromosomal structure abnormalities; telomere biology and ageing
Jaclyn Murry, PhD, Assistant Professor
Co-Director, Cytogenomics Laboratory, Department of Pathology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Research interests: cytogenetics; cytogenomics; newborn screening, congenital disorders
About the topic:
Mosaicism has been well-studied in the context of the consequences of early development, especially in its role in understanding how genetic variations can lead to human disease, whether it is gross chromosomal aberrations (numerical or structural) or point mutations, etc. An example is mosaic Down syndrome, but other commonly encountered aneuploidies may be compatible with life at lower levels. Another consideration is whether a structurally abnormal chromosome could lead to mitotic nondisjunction/anaphase lag (loss) and result in multiple lines in a single individual. In the prenatal community, the concept of confined placental mosaicism is well-known. With the use of non-invasive prenatal screening, could a placental sampling reveal the possibility of pseudopartial moles, a rare phenomenon of placental mesenchymal dysplasia, leading to intrauterine growth restriction and an otherwise healthy fetus? There is another phenomenon, mixoploidy, whereby the presence of one genomic aberration may be permissive of another chromosomal aberration (such as triploidy and trisomy or dual trisomy). Other forms of genetic variation could also be subject to mosaicism: copy number changes, and even epigenetic changes. Even so, there are some individuals whose cryptic mosaicism may not be recognized and may escape clinical ascertainment.
Similarly, natural chimerism has been studied and thought to be rare. However, this association is dependent on sex-mismatch and may be missed in the context of female-female pairs by classic cytogenetic methods. In vitro fertilization (IVF) conception and multiple embryo transfer has been suggested to promote cell absorption events; twin to twin transfusion is another way in which this scenario could occur. The advent and availability of more sensitive molecular techniques may allow for more subtle and unusual, even unknown, twin pairs to be detected, which may have implications for treatment, identity testing, and even forensic testing.
Somatic mosaicism has been studied in the context of cancers, with some specific gross chromosomal numerical aberrations (aneuploidies) being associated with age, rather than suggestive of underlying disease. More recently, a phenomenon of clonal aberrations at the mutation level in described older individuals in the hematopoietic compartment, and must be correlated with morphological and cellular characteristics to determine its significance, if any.
aneuploidy; chimerism; chromosomal aberration; confined placental mosaicism; epigenetic changes; genetic variation; in vitro fertilization conception; mitotic nondisjunction/anaphase lag; mixoploidy; mosaic Down syndrome; mutation; numerical chromosome aberration; pseudopartial moles; structural chromosome aberration; triploid; trisomy; twin to twin transfusion
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